Publications by authors named "Emilie Bourel"
Article Synopsis
- Mutations in KCNQ2 and KCNQ3 genes lead to neonatal epilepsies with varying severity, including benign familial neonatal epilepsy (BFNE) and KCNQ2 encephalopathy, characterized by severe outcomes like drug-resistant seizures and developmental delays.
- Evidence from 17 patients revealed 16 novel mutations in KCNQ2 and one in KCNQ3, mostly consisting of substitutions and deletions.
- Electrophysiological studies showed that mutant channels had reduced current densities, and some mutations also impaired channel regulation by syntaxin-1A, indicating a new mechanism for KCNQ2-related epilepsies.
Unlabelled: Ketogenic diet (KD) is an efficient treatment for refractory epilepsy including infantile spasms (IS). We evaluated the effect of a KD to treat IS as a third-line treatment, after vigabatrin (VGB) and steroids. We evaluated the efficacy and the tolerability of KD in IS using the rate of seizure-free patients at 1 month.
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